Biphasic regulation of CFTR expression by ENaC in epithelial cells: The involvement of Ca-modulated cAMP production.

The regulatory interaction between two typical epithelial ion channels, cystic fibrosis transmembrane conductance regulator (CFTR) and the epithelial sodium channel (ENaC), for epithelial homeostasis has been noted, although the underlying mechanisms remain unclear. Here, we report that in a human endometrial epithelial cell line (ISK), shRNA-based stable knockdown of ENaC produced a biphasic effect: a low (∼23%) degree of ENaC knockdown resulted in significant increases in CFTR mRNA and protein levels, CFTR-mediated Cl transport activity as well as intracellular cAMP concentration, while a higher degree (∼50%) of ENaC knockdown did not further increase but restored CFTR expression and cAMP levels. The basal intracellular Ca level of ISK cells was lowered by ENaC knockdown or inhibition in a degree-dependent manner.

[Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age].

Objective: The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.

Methods: Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis.

[Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy].

Objective: To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus.

Methods: DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation.

Interfacial modification of titanium dioxide to enhance photocatalytic efficiency towards H production.

Strong demand for affordable clean energy to support applications ranging from conventional energy supply to space propulsion places spotlight on advanced energy generation using photovoltaic and wind power. Yet, the intermittent nature of solar and wind sources drives the search for energy storage solutions that would permit the needed level of resilience and support further growth in the use of renewable sources of power. Hydrogen generation using sunlight is a promising pathway to decouple demand from supply.

[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis].

Objective: To explore the genetic etiology for a pedigree affected with progressive familial intrahepatic cholestasis (PFIC).

Methods: Target sequence capture and next generation sequencing (NGS) were applied for the proband. PCR and Sanger sequencing were used to verify the suspected mutation in his sister with similar symptoms and his parents.

[Two cases of rare diseases with abnormalities of X chromosome].

Objective: To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.

Methods: Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis.

[Progress in genetic research on non-immune hydrops fetalis].

Non-immune factors are the most common cause of hydrops fetalis, which may manifest as abnormal accumulation of fluid in the body cavities. Hydrops fetalis is a complex condition with a high mortality rate. The prognosis is depending on the underlying disease and is particularly poor in those with chromosomal aberrations or monogenic disorders.